A chronic autoimmune disorder impacting the small intestines, lasting a lifetime, Celiac disease is really pretty rare, occurring in only about 1% of people in the western world (Marciniak et al., 2021) or so we've thought. Newer literature is demonstrating this condition is likely much more prominent than previously understood and that we should work to identify it early, even in those with few symptoms, because subclinical Celiac disease can lead to a number of complications later in life (Ch'ng et al., 2007).
We know that Celiac disease is more common in those with autoimmune diseases, so should be ruled out in those with inflammatory bowel disease and those with elevated liver enzymes, even fatty liver (Ch'ng et al., 2007). Thyroid disease is associated with increased incidence of Celiac disease, as is type 1 diabetes so that in the latter case, screening is recommended by some professionally groups annually, although the U.S. Preventive Task Force still doesn't recommend screening unless classic clinical symptoms are evident. Anemia, osteoporosis, autoimmune disorders, unexplained neurological syndromes, infertility, and even some psychiatric scenarios though are reason enough for other professional groups to support exploring Celiac as the potential underlying cause.
Humans have digestive enzymes that help us break down food. Protease is the enzyme that helps our body process proteins, but it can't completely break down gluten. Undigested gluten therefore, makes its way to the small intestine. Most people can handle this undigested gluten, but in others it triggers a severe autoimmune response and a cascade of unpleasant symptoms. It is this autoimmune response that defines Celiac Disease and ultimately leads to damage within the small intestine.
Celiac disease is an absorption, or digestive, disorder and caused from an abnormal immune response to gluten which is found in wheat, rye, and barley. This can be genetic, but it is also environmental, sometimes infectious, other times metabolic, and more often than we give credit, our immune system plays a role. When one has an autoimmune disease, the incidence of Celiac disease is nearly tripled, if not ten times more common (Panetta et al., 2012 & Volta et al., 2011). We also see Celiac disease more often with Down's Syndrome, Turner's syndrome, and Williams' syndrome (Marciniak et al., 2021). Genetically it seems to present in about 20% of first-degree relatives.
Interestingly, recent research has demonstrated that breastfeeding and delaying gluten introduction did not change the risk of disease (Williams et al., 2022). However, additional research has shown that the amount of gluten consumed by genetically predisposed children during the first five years of life resulted in a statistically significant increased risk of celiac disease.
The mainstay of treatment is a gluten-free diet; however, we are finding that many who follow these diets, Celiac diagnosis or not, are increasing their body fat and suffering more metabolic disease because they aren't quite balancing their food options well (Marciniak et al., 2021). Other findings have been increased total cholesterol, LDL and triglycerides.
What Symptoms Might I Notice if I had Celiac Disease?
Symptoms of Celiac disease are often #diarrhea, weight loss, abdominal pain, bloating, malabsorption, constipation, and failure to thrive (Barker & Liu, 2009). Most adult clients will present with non-classic symptoms, including less specific gastrointestinal symptoms or symptoms such as #anemia, vitamin D or vitamin K deficiency, osteoporosis, elevated liver enzymes, eczema, dermatitis herpetiformis, alopecia, aphthous ulcers, anxiety and depression, or even recurrent miscarriage. As many as one in four adults will have arthritis, upwards of 70% will have abnormalities in their dental enamel which is why many dentists are the first to investigate this potential, and 40% of people with Celiac disease will have abnormal liver enzymes.
Celiac Disease should be considered in both primary care and specialty clinics for individuals early in their plan of care in effort to prevent complications in later life of undiagnosed or subclinical disease.
During the first year of life, an infant may manifest Celiac disease with intermittent vomiting, diarrhea, growth delay, and failure to thrive (Barker & Liu, 2009). The incidence of this early presentation in infants has decreased. However, to prevent significant growth problems in infants, confirmation of Celiac disease is important.
Older children may present with shorter stature, delayed puberty, anemia, hepatitis, epilepsy, and other symptoms beyond the gut (Barker & Liu, 2009). In fact, up to 8% of children who present to the primary care provider with shorten stature have Celiac disease. With age, these become more vague, although abdominal pain, aphthous stomatitis, and atopic dermatitis were the more common presentations. Young adults will often present with dermatitis herpetiformis after eating foods with a high amount of gluten. Alopecia is a presentation consistent with Celiac disease and with elimination of gluten, can be resolved (although this accounts for about one in 85 cases). At least half of children diagnosed with Celiac disease have some level of neurologic or psychiatric disorder.
How is Celiac Disease Diagnosed?
Unlike so many autoimmune diseases, the environmental trigger is known with Celiac disease. Gluten is the trigger. The genetics have been identified, but have not really been integrated as part of the diagnostic criteria. The dominant HLA contribution is required for the disease to occur, either DQ2 or DQ8, and autoantibodies against TG are present in at least 95% of cases (Barker & Liu, 2009). This means that while we can't confidently diagnose Celiac with an epigenetic panel, we can absolutely rule out if that there is no possibility.
When there is concern for Celiac, or an individual is high risk, then screening with serologic tests can be helpful. The anti-tissue transglutaminase (anti-tTG) antibody is highly sensitive and now the single test recommended for screening (Ch'ng et al., 2007 & Kagnoff, 2006).
The esophagogastroduodenoscopy with small bowel biopsy is gold standard for confirming the diagnosis and has been utilized since the 1960s (Barker & Liu, 2009), but in 1997, transglutaminase was identified as the autoantigen in celiac disease. The immunoglobulin A tissue transglutaminase serologic testing is now more often performed when Celiac disease is suspected. In the little ones with a high immunoglobulin A tissue transglutaminase and a positive test for immunoglobulin A endomysial antibodies, a biopsy can typically be avoided.
The prevalence of Celiac disease as we understand today, is only the tip of the iceberg, and the majority of people present with a much more mild, more insidious onset of symptoms. When blood donors for example, are screened, data has suggested that for every case identified through symptoms, another eight exist that goes undetected (van Heel & West, 2006). Genetics may not be perfect for diagnosing Celiac disease, but it can certainly rule it out (Ch'ng et al., 2007).
Others have similar symptoms as those with Celiac disease when they eat gluten - still suffering bloating, diarrhea, headaches, and skin rashes, but the underlying cause differs. When Celiac disease is ruled out, this response is more likely due to poorly digested carbohydrates, not just gluten. These carbohydrates, called #FODMAPS, ferment in the gut and that causes their discomfort. More often these individuals do better with whole grains and should avoid processed foods that are stripped down.
What Does This Mean?
A gluten-free diet for life is the primary treatment, which really is very encroaching on one's social life. Avoiding gluten means avoiding bread, pasta, beer, and sometimes oats even cosmetics and nutritional supplements, so a big deal. Gluten is naturally occurring, but it can be extracted, concentrated and added to food and other products to add protein, texture and flavor. It also works as a binding agent to hold processed foods together and give them shape. Inadvertent exposure then happens, symptoms can continue, and antibodies can remain elevated. It's important to work closely with your clinician initially to assure treatment is effective, and potentially consulting with a nutritionist with experience in gluten-free diets.
Eliminating gluten willy nilly can be devastating beyond what the clinician may recognize. The client has to think of hidden sources of gluten, learn to read food labels, plan all their meals including those when they dine out and when they travel, and avoid cross-contamination. When clients do try the elimination diet though and still don't have success, then they should have the accuracy of diagnosis confirmed, have their diet reassessed, and be evaluated for coexisting conditions. Some do experience refractory disease, and while there are additional tricks to consider, some do need referral to gastroenterology.
A high percentage of clients visiting my office share that they are #gluten free; most having never been tested for Celiac but in spite of their new diet, they are still having symptoms. While I appreciate that elimination diets can do wonders for various dis-ease, they are also quite restrictive. I am a huge fan of the Mediated Release Testing and LEAP therapy, but of course, if symptoms persist then I want to dig deeper for underlying cause and testing for Celiac disease is neither challenging, nor expensive. Having a clear diagnosis is helpful in really targeting the root cause of your symptoms. Of course, in those with high risk, it can also improve quality of life decades into your future.
This is a condition we speak to extensively in our Thyroid Healing program, as well as our Gut Health program, and of course, I am more than happy to consult with you if you wonder if maybe you might have Celiac disease.
References
Barker, J. M. & Liu, E. (2009). Celiac disease: pathophysiology, clinical manifestations and associated autoimmune conditions. Advanced Pediatrics, 55, 349-365.
Marciniak, M., Szymczak-Tomczak, A., Mahadea, D., Eder, P., Dobrowolska, A., & Krela-Kazmierczak, I. (2021). Multidimensional disadvantages of a gluten-free diet in Celiac disease: a narrative review. Nutrients, 13(2), 643.
Panetta, F., Nobili, V., Sartorelli, M. R., Papa, R. E., Ferretti, F., Alterio, A., & Diamanti, A. (2012). Celiac disease in pediatric patients with autoimmune hepatitis: etiology, diagnosis, and management. Paediatric Drugs, 14, 35-41.
van Heel, D. A. & West, J. (2006). Recent advances in coeliac disease. Gut, 55, 10377-1046.
Volta, U., Tovoli, F., & Caio, G. (2011). Clinical and immunological features of celiac disease in patients with type 1 diabetes mellitus. Expert Review Gastroenterology & Hepatology, 5, 479-487.
Williams, P. M., Harris, L. M., & Odom, M. R. (2022). Celiac disease: common questions and answers. American Family Physician, 106(1), 36-43.
Comments